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Detailed information for vg0103098423:

Variant ID: vg0103098423 (JBrowse)Variation Type: INDEL
Chromosome: chr01Position: 3098423
Reference Allele: CAlternative Allele: CAAAA,CAAA,CAAAAA,CAAAAAA,CAA,CA
Primary Allele: CAAAASecondary Allele: CAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCGCCGTCGGGCCCTGAGCCGACGCCGCGATGGCCATGGACACAACAAGACACAGCACAAGTCTCTGCATGGCTTGCATGGTGGATGCTGTCACAGTGT[C/CAAAA,CAAA,CAAAAA,CAAAAAA,CAA,CA]
AAAAAAAAAACTTGGTGATTGCTATTGGTTGTGAACTTGTGATGAGCTTTCTGCATGCAATGCAACTCAACTGATCAAGAATTCAAGATCGATCGTAATG

Reverse complement sequence

CATTACGATCGATCTTGAATTCTTGATCAGTTGAGTTGCATTGCATGCAGAAAGCTCATCACAAGTTCACAACCAATAGCAATCACCAAGTTTTTTTTTT[G/TTTTG,TTTG,TTTTTG,TTTTTTG,TTG,TG]
ACACTGTGACAGCATCCACCATGCAAGCCATGCAGAGACTTGTGCTGTGTCTTGTTGTGTCCATGGCCATCGCGGCGTCGGCTCAGGGCCCGACGGCGGC

Allele Frequencies:

Populations Population SizeFrequency of CAAAA(primary allele) Frequency of CAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 28.50% 14.80% 38.36% 7.17% C: 7.43%; CAAA: 2.01%; CAAAAAA: 0.89%; CAAAAA: 0.68%; CA: 0.17%
All Indica  2759 35.80% 4.70% 41.50% 8.63% C: 5.22%; CAAA: 2.90%; CAAAAA: 0.83%; CAAAAAA: 0.33%; CA: 0.07%
All Japonica  1512 19.60% 35.40% 28.90% 4.83% C: 10.19%; CAAA: 0.66%; CA: 0.26%; CAAAAA: 0.07%
Aus  269 5.60% 3.00% 56.88% 8.18% C: 14.13%; CAAAAAA: 11.52%; CAAAAA: 0.37%; CA: 0.37%
Indica I  595 29.10% 1.70% 60.17% 5.71% C: 2.69%; CAAA: 0.50%; CAAAAA: 0.17%
Indica II  465 40.40% 1.90% 44.73% 6.88% C: 4.73%; CAAA: 0.65%; CAAAAAA: 0.43%; CAAAAA: 0.22%
Indica III  913 40.40% 8.90% 25.41% 10.84% CAAA: 6.24%; C: 6.02%; CAAAAA: 1.75%; CAAAAAA: 0.44%
Indica Intermediate  786 32.80% 3.80% 44.15% 9.29% C: 6.49%; CAAA: 2.16%; CAAAAA: 0.64%; CAAAAAA: 0.38%; CA: 0.25%
Temperate Japonica  767 23.70% 8.20% 43.29% 7.43% C: 16.82%; CAAA: 0.39%; CAAAAA: 0.13%
Tropical Japonica  504 9.90% 76.80% 9.33% 0.60% C: 1.98%; CAAA: 0.99%; CA: 0.40%
Japonica Intermediate  241 27.00% 35.70% 24.07% 5.39% C: 6.22%; CA: 0.83%; CAAA: 0.83%
VI/Aromatic  96 27.10% 2.10% 47.92% 3.12% C: 8.33%; CAAAAA: 6.25%; CAAA: 2.08%; CAAAAAA: 2.08%; CA: 1.04%
Intermediate  90 24.40% 24.40% 35.56% 3.33% C: 7.78%; CAAA: 3.33%; CAAAAA: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0103098423 C -> CA LOC_Os01g06580.1 5_prime_UTR_variant ; 22.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CA LOC_Os01g06570.1 downstream_gene_variant ; 2494.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CA LOC_Os01g06590.1 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CA LOC_Os01g06590.2 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CA LOC_Os01g06590.3 downstream_gene_variant ; 1222.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAA LOC_Os01g06580.1 5_prime_UTR_variant ; 22.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAA LOC_Os01g06570.1 downstream_gene_variant ; 2494.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAA LOC_Os01g06590.1 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAA LOC_Os01g06590.2 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAA LOC_Os01g06590.3 downstream_gene_variant ; 1222.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAA LOC_Os01g06580.1 5_prime_UTR_variant ; 22.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAA LOC_Os01g06570.1 downstream_gene_variant ; 2494.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAA LOC_Os01g06590.1 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAA LOC_Os01g06590.2 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAA LOC_Os01g06590.3 downstream_gene_variant ; 1222.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAA LOC_Os01g06580.1 5_prime_UTR_variant ; 22.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAA LOC_Os01g06570.1 downstream_gene_variant ; 2494.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAA LOC_Os01g06590.1 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAA LOC_Os01g06590.2 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAA LOC_Os01g06590.3 downstream_gene_variant ; 1222.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAAA LOC_Os01g06580.1 5_prime_UTR_variant ; 22.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAAA LOC_Os01g06570.1 downstream_gene_variant ; 2494.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAAA LOC_Os01g06590.1 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAAA LOC_Os01g06590.2 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAAAAA LOC_Os01g06590.3 downstream_gene_variant ; 1222.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> DEL N N silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAA LOC_Os01g06580.1 5_prime_UTR_variant ; 22.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAA LOC_Os01g06570.1 downstream_gene_variant ; 2494.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAA LOC_Os01g06590.1 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAA LOC_Os01g06590.2 downstream_gene_variant ; 1004.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N
vg0103098423 C -> CAAA LOC_Os01g06590.3 downstream_gene_variant ; 1222.0bp to feature; MODIFIER silent_mutation Average:92.886; most accessible tissue: Zhenshan97 flag leaf, score: 98.326 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0103098423 C CA -0.14 -0.17 -0.03 -0.05 -0.07 -0.08
vg0103098423 C CAA -0.13 -0.03 0.11 0.0 0.02 0.03
vg0103098423 C CAAA -0.06 0.11 0.07 0.01 0.09 0.16
vg0103098423 C CAAAA -0.03 0.11 0.08 -0.03 0.05 0.09
vg0103098423 C CAAAA* -0.17 -0.01 0.02 -0.1 0.0 0.04